Canonical Allele Identifier: CA1198820754
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146017863A= , CM000663.2:g.146017863A= GRCh38
NC_000001.10:g.145417150T= , CM000663.1:g.145417150T= GRCh37
NC_000001.9:g.144128507T= NCBI36
NG_011568.1:g.8960T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.*214T= MANE Select ENSP00000337014.5:n.*214T=
ENST00000636675.1:c.*214T= ENSP00000490072.1:n.*214T=
ENST00000336751.10:c.*214T= ENSP00000337014.5:n.*214T=
ENST00000357836.5:c.*214T= ENSP00000350495.5:n.*214T=
ENST00000475797.1:c.*214T= ENSP00000425716.1:n.*214T=
ENST00000497365.5:c.*214T= ENSP00000421820.1:n.*214T=
NM_001316767.1:c.*214T= NP_001303696.1:n.*214T=
NM_145277.4:c.*214T= NP_660320.3:n.*214T=
NM_202004.3:c.*214T= NP_973733.1:n.*214T=
NM_213652.3:c.*214T= NP_998817.1:n.*214T=
NM_213653.3:c.*214T= NP_998818.1:n.*214T=
XM_005272932.1:c.*214T= XP_005272989.1:n.*214T=
NM_001316767.2:c.*214T= NP_001303696.1:n.*214T=
NM_145277.5:c.*214T= NP_660320.3:n.*214T=
NM_202004.4:c.*214T= NP_973733.1:n.*214T=
NM_213652.4:c.*214T= NP_998817.1:n.*214T=
NM_001379352.1:c.*214T= NP_001366281.1:n.*214T=
NM_213653.4:c.*214T= MANE Select NP_998818.1:n.*214T=